Canonical Allele Identifier: CA342823602

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1063648
• ClinVar RCV Id: RCV001373505 ; RCV003298620
• dbSNP Id: rs1311820114
• gnomAD v4: 1-156137224-A-G
• MyVariant Identifiers: chr1:g.156107015A>G (hg19) ; chr1:g.156137224A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137224A>G , CM000663.2:g.156137224A>G	GRCh38
NC_000001.10:g.156107015A>G , CM000663.1:g.156107015A>G	GRCh37
NC_000001.9:g.154373639A>G	NCBI36
NG_008692.2:g.59652A>G , LRG_254:g.59652A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504687.7:c.1042A>G	ENSP00000426535.3:p.Thr348Ala
ENST00000459904.2:n.848A>G
ENST00000498722.3:n.832A>G
ENST00000682650.1:c.1600A>G	ENSP00000506904.1:p.Thr534Ala
ENST00000683032.1:c.1600A>G	ENSP00000506771.1:p.Thr534Ala
ENST00000684195.1:c.1579+21A>G	ENSP00000508220.1:n.1579+21A>G
ENST00000361308.9:c.1600A>G	ENSP00000355292.6:p.Thr534Ala
ENST00000368300.9:c.1600A>G MANE Select	ENSP00000357283.4:p.Thr534Ala
ENST00000496738.6:n.2059A>G
ENST00000674518.1:c.*950A>G	ENSP00000502261.1:n.*950A>G
ENST00000674600.1:c.*1399A>G	ENSP00000501666.1:n.*1399A>G
ENST00000674720.1:c.*162A>G	ENSP00000502798.1:n.*162A>G
ENST00000675431.1:n.1293A>G
ENST00000675455.1:c.*1400A>G	ENSP00000501795.1:n.*1400A>G
ENST00000675667.1:c.1600A>G	ENSP00000501803.1:p.Thr534Ala
ENST00000675874.1:c.*1071A>G	ENSP00000501851.1:n.*1071A>G
ENST00000675881.1:c.*611A>G	ENSP00000501670.1:n.*611A>G
ENST00000675939.1:c.1600A>G	ENSP00000502256.1:p.Thr534Ala
ENST00000675989.1:n.2459A>G
ENST00000676208.1:c.*703A>G	ENSP00000502468.1:n.*703A>G
ENST00000676283.1:n.1975A>G
ENST00000676385.2:c.1600A>G	ENSP00000502091.1:p.Thr534Ala
ENST00000676434.1:c.*611A>G	ENSP00000501648.1:n.*611A>G
ENST00000677389.1:c.1600A>G MANE Plus Clinical	ENSP00000503633.1:p.Thr534Ala
ENST00000347559.6:c.1600A>G	ENSP00000292304.3:p.Thr534Ala
ENST00000361308.8:c.1345A>G	ENSP00000355292.5:p.Thr449Ala
ENST00000368297.5:c.1357A>G	ENSP00000357280.1:p.Thr453Ala
ENST00000368298.2:n.1432A>G
ENST00000368299.7:c.1600A>G	ENSP00000357282.3:p.Thr534Ala
ENST00000368300.8:c.1600A>G	ENSP00000357283.4:p.Thr534Ala
ENST00000368301.6:c.1600A>G	ENSP00000357284.2:p.Thr534Ala
ENST00000448611.6:c.1264A>G	ENSP00000395597.2:p.Thr422Ala
ENST00000459904.1:n.848A>G
ENST00000473598.6:c.1303A>G	ENSP00000421821.1:p.Thr435Ala
ENST00000496738.5:n.1069A>G
ENST00000498722.2:n.832A>G
ENST00000508500.1:c.478A>G	ENSP00000424977.1:p.Thr160Ala
NM_001257374.2:c.1264A>G	NP_001244303.1:p.Thr422Ala
NM_001282624.1:c.1357A>G	NP_001269553.1:p.Thr453Ala
NM_001282625.1:c.1600A>G	NP_001269554.1:p.Thr534Ala
NM_001282626.1:c.1600A>G	NP_001269555.1:p.Thr534Ala
NM_005572.3:c.1600A>G , LRG_254t1:c.1600A>G	NP_005563.1:p.Thr534Ala
NM_170707.3:c.1600A>G	NP_733821.1:p.Thr534Ala
NM_170708.3:c.1600A>G	NP_733822.1:p.Thr534Ala
XM_011509533.1:c.1264A>G	XP_011507835.1:p.Thr422Ala
XM_011509534.1:c.976A>G	XP_011507836.1:p.Thr326Ala
XR_921781.1:n.1889A>G
XM_011509534.2:c.976A>G	XP_011507836.1:p.Thr326Ala
XR_921781.2:n.1887A>G
NM_170707.4:c.1600A>G MANE Select	NP_733821.1:p.Thr534Ala
NM_001257374.3:c.1264A>G	NP_001244303.1:p.Thr422Ala
NM_001282626.2:c.1600A>G	NP_001269555.1:p.Thr534Ala
NM_001282624.2:c.1357A>G	NP_001269553.1:p.Thr453Ala
NM_001282625.2:c.1600A>G	NP_001269554.1:p.Thr534Ala
NM_005572.4:c.1600A>G MANE Plus Clinical	NP_005563.1:p.Thr534Ala
NM_170708.4:c.1600A>G	NP_733822.1:p.Thr534Ala